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Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity
Pediatric Nephrology, 08/10/09
Andreucci E et al. – The study confirms the association of EVA and mutations in the ATP6V1B1 gene and demonstrates that mutations in the ATP6V0A4 gene can also be associated with EVA probably only when the SNHL has an early onset. The pathophysiology of SNHL and EVA are still to be defined.
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